Ichilov hospital and Sourasky Medical Centre in Tel Aviv..
(photo credit: WIKIMEDIA COMMONS/GELLERJ)
The genetic basis for pemphigus – a rare, non-contagious autoimmune disease that is found more often in Jews than others – has been deciphered by researchers at Sourasky Medical Center in Tel Aviv, led by Prof. Eli Sprecher, who have published their findings in the journal PLOS Genetics after studying the disease for a decade.
The disease, which could in the most serious cases be fatal if left untreated, causes blistering of the skin and mucous membranes (mouth, nose, throat, eyes and genitals) and possible complications. Some forms of the disease, including the most common, were fatal in the 1960s but such tragedies are now rare.
Among the ethnic groups with a higher risk for pemphigus are Jews of Eastern European origin and others from the Mediterranean basin. A variation of the disease is also known in dogs and cats.
In pemphigus, the body’s immune system mistakenly attacks the cells in the mucous membrane and top layer of the skin, and the immune system creates antibodies against proteins named desmogleins in the skin, which form the glue that keeps skin cells attached and the skin intact.
When desmogleins are attacked, skin cells separate from each other and fluid can collect between the layers of skin, forming blisters that don’t heal. In some cases, these blisters can cover a large area of skin. If a person has a genetic basis for his susceptibility, an environmental event can trigger an attack.
Dan Vodu, a doctoral student in Sourasky’s dermatology department, said many patients carry a genetic defect that causes overexpression of a protein known as ST18, which affects the skin and not the immune system. As a result, there is inflammation that creates instability in the skin tissue. The researchers even managed to recreate the effects of overexpression in the lab.
According to Sprecher, the discovery is very important because its effects go beyond the borders of pemphigus alone, as they also can explain various other autoimmune processes and lead to the development of new drugs for this family of disorders.
“[The] real challenge,” said Dr. Ofer Sarig, head of the research lab in the dermatology department, “is to try and translate our findings into a drug that will neutralize the harmful effects of the defective protein in pemphigus sufferers. The path is long, but it provides much hope for our patients.”
Pemphigus usually attacks people from the age of 40, and is treated with steroids and other drugs that affect the immune system.
Patients with symptoms should first see a dermatologist for an initial diagnosis, though no single test is enough in every case to confirm the diagnosis.